Canonical Allele Identifier: CA350449800
Gene: BARD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2565202
ClinVar RCV Id: RCV003301725

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214728710A>G , CM000664.2:g.214728710A>G GRCh38
NC_000002.11:g.215593434A>G , CM000664.1:g.215593434A>G GRCh37
NC_000002.10:g.215301679A>G NCBI36
NG_012047.2:g.85995T>C
NG_012047.3:g.86002T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.2300T>C MANE Select ENSP00000260947.4:p.Val767Ala
ENST00000421162.2:c.947T>C ENSP00000392245.2:p.Val316Ala
ENST00000613192.2:c.*363T>C ENSP00000483275.2:n.*363T>C
ENST00000613374.5:c.890T>C ENSP00000484464.1:p.Val297Ala
ENST00000613706.5:c.1892T>C ENSP00000484976.2:p.Val631Ala
ENST00000617164.5:c.2243T>C ENSP00000480470.1:p.Val748Ala
ENST00000619009.5:c.761T>C ENSP00000482293.1:p.Val254Ala
ENST00000650978.1:c.3675T>C
ENST00000260947.8:c.2300T>C ENSP00000260947.4:p.Val767Ala
ENST00000432456.5:c.443T>C
ENST00000455743.5:c.*1920T>C ENSP00000412186.1:n.*1920T>C
ENST00000471590.5:n.635T>C
ENST00000613192.1:c.470T>C ENSP00000483275.1:p.Val157Ala
ENST00000613374.4:c.890T>C ENSP00000484464.1:p.Val297Ala
ENST00000613706.4:c.947T>C ENSP00000484976.1:p.Val316Ala
ENST00000617164.4:c.2243T>C ENSP00000480470.1:p.Val748Ala
ENST00000619009.4:c.761T>C ENSP00000482293.1:p.Val254Ala
ENST00000620057.4:c.*966T>C ENSP00000481988.1:n.*966T>C
NM_000465.3:c.2300T>C NP_000456.2:p.Val767Ala
NM_001282543.1:c.2243T>C NP_001269472.1:p.Val748Ala
NM_001282545.1:c.947T>C NP_001269474.1:p.Val316Ala
NM_001282548.1:c.890T>C NP_001269477.1:p.Val297Ala
NM_001282549.1:c.761T>C NP_001269478.1:p.Val254Ala
NR_104212.1:n.2293T>C
NR_104215.1:n.2236T>C
NR_104216.1:n.1492T>C
XM_011511567.1:c.2246T>C XP_011509869.1:p.Val749Ala
XM_017004613.1:c.2399T>C XP_016860102.1:p.Val800Ala
XR_002959322.1:n.2666T>C
NM_000465.4:c.2300T>C MANE Select NP_000456.2:p.Val767Ala
NM_001282543.2:c.2243T>C NP_001269472.1:p.Val748Ala
NM_001282545.2:c.947T>C NP_001269474.1:p.Val316Ala
NM_001282548.2:c.890T>C NP_001269477.1:p.Val297Ala
NM_001282549.2:c.761T>C NP_001269478.1:p.Val254Ala
NR_104212.2:n.2265T>C
NR_104215.2:n.2208T>C
NR_104216.2:n.1464T>C